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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830197220
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
332819
ClinVar RCV Id:
RCV000268813
RCV000320381
RCV000326238
RCV000370458
RCV000383052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro17703Thr
CA10613278
NM_133378.4:c.53107C>A